Variant | Gene | DSI v | DPI v | Chr | Position | Consequence | Alleles | Class | AF EXOME | AF GENOME | Disease | Score vda | EI vda | N. PMIDs | First Ref. | Last Ref. | ||||||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
0.776 | 0.200 | 5 | 179836445 | missense variant | C/T | snv | 9.8E-04 | 1.3E-03 |
|
0.010 | 1.000 | 1 | 2007 | 2007 | |||||||
|
0.330 | 0.920 | 1 | 11796309 | missense variant | A/G | snv | 4.0E-06 | 7.0E-06 |
|
0.010 | 1.000 | 1 | 2006 | 2006 | |||||||
|
0.882 | 0.240 | 11 | 68357673 | missense variant | G/T | snv |
|
0.010 | 1.000 | 1 | 2015 | 2015 | |||||||||
|
0.605 | 0.520 | 21 | 31667299 | missense variant | G/A;C;T | snv | 1.2E-05; 8.0E-06 |
|
0.010 | 1.000 | 1 | 2018 | 2018 | ||||||||
|
0.716 | 0.400 | 1 | 155236354 | missense variant | T/C | snv | 1.4E-05 |
|
0.010 | 1.000 | 1 | 2008 | 2008 | ||||||||
|
1.000 | 0.080 | X | 32485069 | missense variant | G/A | snv | 9.5E-06 |
|
0.010 | 1.000 | 1 | 2005 | 2005 | ||||||||
|
1.000 | 0.080 | 17 | 50195926 | synonymous variant | A/G | snv |
|
0.010 | 1.000 | 1 | 2007 | 2007 | |||||||||
|
0.542 | 0.760 | 12 | 47846052 | intron variant | C/A;G;T | snv |
|
0.010 | 1.000 | 1 | 2015 | 2015 | |||||||||
|
0.925 | 0.120 | 12 | 121184717 | missense variant | T/A | snv | 1.5E-02 |
|
0.010 | 1.000 | 1 | 2012 | 2012 | ||||||||
|
0.581 | 0.680 | 20 | 46118343 | 5 prime UTR variant | T/C | snv | 0.75 | 0.80 |
|
0.010 | 1.000 | 1 | 2008 | 2008 | |||||||
|
0.776 | 0.360 | 8 | 118952044 | upstream gene variant | G/A | snv | 0.58 |
|
0.010 | 1.000 | 1 | 2016 | 2016 | ||||||||
|
0.521 | 0.760 | 12 | 47879112 | start lost | A/C;G;T | snv | 0.63 |
|
0.010 | 1.000 | 1 | 2019 | 2019 | ||||||||
|
0.752 | 0.280 | 12 | 121184393 | missense variant | A/G | snv | 0.13 | 0.12 |
|
0.010 | 1.000 | 1 | 2012 | 2012 | |||||||
|
0.882 | 0.120 | 20 | 6770235 | missense variant | T/C;G | snv | 2.4E-02 |
|
0.010 | 1.000 | 1 | 2008 | 2008 | ||||||||
|
0.807 | 0.160 | 20 | 6778468 | missense variant | A/G;T | snv | 0.67 |
|
0.010 | 1.000 | 1 | 2006 | 2006 | ||||||||
|
0.742 | 0.480 | 16 | 10877045 | intron variant | G/A | snv | 0.53 |
|
0.010 | 1.000 | 1 | 2012 | 2012 | ||||||||
|
0.925 | 0.080 | 11 | 68309770 | upstream gene variant | T/A;C | snv |
|
0.010 | 1.000 | 1 | 2019 | 2019 | |||||||||
|
0.752 | 0.400 | 11 | 68433827 | missense variant | C/T | snv | 0.13 | 0.11 |
|
0.010 | 1.000 | 1 | 2008 | 2008 | |||||||
|
0.590 | 0.600 | 19 | 44908684 | missense variant | T/C | snv | 0.14 | 0.16 |
|
0.010 | 1.000 | 1 | 2010 | 2010 | |||||||
|
0.882 | 0.120 | 8 | 118911634 | regulatory region variant | A/G;T | snv |
|
0.010 | 1.000 | 1 | 2008 | 2008 | |||||||||
|
0.851 | 0.160 | 11 | 68406721 | missense variant | G/A;C | snv | 3.8E-02 |
|
0.010 | 1.000 | 1 | 2019 | 2019 | ||||||||
|
0.701 | 0.360 | 21 | 43063074 | missense variant | A/G | snv |
|
0.010 | 1.000 | 1 | 2018 | 2018 | |||||||||
|
0.732 | 0.320 | 15 | 51236915 | synonymous variant | T/C | snv | 0.43 | 0.40 |
|
0.010 | 1.000 | 1 | 2013 | 2013 | |||||||
|
0.790 | 0.280 | 17 | 50196337 | missense variant | G/A | snv |
|
0.010 | 1.000 | 1 | 2007 | 2007 | |||||||||
|
0.925 | 0.240 | 17 | 50193990 | missense variant | G/A;C | snv |
|
0.010 | 1.000 | 1 | 2007 | 2007 |